E31Q (p.Glu31Gln) variant of HRAS (GTPase HRas)
E31Q (p.Glu31Gln) in HRAS (GTPase HRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Costello syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
E31Q (p.Glu31Gln) variant details
- p.Glu31Gln
- rs2133994335
- Ensembl rs2133994335
- ClinGen CA378925029
- ClinVar RCV003628135
- Uncertain significance
- Costello syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- AlphaMissense 0.78
- MetaLR 0.30
- MetaSVM -0.35
- PolyPhen-2 0.41
- SIFT 0.00
- EVE 0.36
- ClinVar: Uncertain significance (Costello syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRAS-Related Costello Syndrome. (PMID 20301680)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)